Mannini L - Search Results

1

Mutant cohesin drives chromosomal instability in early colorectal adenomas.

Cucco F, Servadio A, Gatti V, Bianchi P, Mannini L, Prodosmo A, De Vitis E, Basso G, Friuli A, Laghi L, Soddu S, Fontanini G, Musio A. Cucco F, et al. Among authors: mannini l. Hum Mol Genet. 2014 Dec 20;23(25):6773-8. doi: 10.1093/hmg/ddu394. Epub 2014 Jul 30. Hum Mol Genet. 2014. PMID: 25080505

2

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

Mannini L, Liu J, Krantz ID, Musio A. Mannini L, et al. Hum Mutat. 2010 Jan;31(1):5-10. doi: 10.1002/humu.21129. Hum Mutat. 2010. PMID: 19842212 Free PMC article. Review.

3

The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

Mannini L, Menga S, Musio A. Mannini L, et al. Hum Mutat. 2010 Jun;31(6):623-30. doi: 10.1002/humu.21252. Hum Mutat. 2010. PMID: 20513141 Free article. Review.

4

The dark side of cohesin: the carcinogenic point of view.

Mannini L, Musio A. Mannini L, et al. Mutat Res. 2011 Nov-Dec;728(3):81-7. doi: 10.1016/j.mrrev.2011.07.004. Mutat Res. 2011. PMID: 22106471 Review.

5

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. Mannini L, et al. Hum Mutat. 2013 Dec;34(12):1589-96. doi: 10.1002/humu.22430. Epub 2013 Sep 16. Hum Mutat. 2013. PMID: 24038889 Free PMC article. Review.

6

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.

Mannini L, C Lamaze F, Cucco F, Amato C, Quarantotti V, Rizzo IM, Krantz ID, Bilodeau S, Musio A. Mannini L, et al. Sci Rep. 2015 Nov 19;5:16803. doi: 10.1038/srep16803. Sci Rep. 2015. PMID: 26581180 Free PMC article.

7

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.

Mannini L, Menga S, Tonelli A, Zanotti S, Bassi MT, Magnani C, Musio A. Mannini L, et al. Am J Med Genet A. 2012 Jan;158A(1):224-8. doi: 10.1002/ajmg.a.34384. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140011

8

SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.

Mannini L, Cucco F, Quarantotti V, Amato C, Tinti M, Tana L, Frattini A, Delia D, Krantz ID, Jessberger R, Musio A. Mannini L, et al. Sci Rep. 2015 Dec 17;5:18472. doi: 10.1038/srep18472. Sci Rep. 2015. PMID: 26673124 Free PMC article.

9

A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity.

Morciano P, Carrisi C, Capobianco L, Mannini L, Burgio G, Cestra G, De Benedetto GE, Corona DF, Musio A, Cenci G. Morciano P, et al. Among authors: mannini l. Hum Mol Genet. 2009 Nov 1;18(21):4180-8. doi: 10.1093/hmg/ddp370. Epub 2009 Aug 4. Hum Mol Genet. 2009. PMID: 19654186

10

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A. Revenkova E, et al. Among authors: mannini l. Hum Mol Genet. 2009 Feb 1;18(3):418-27. doi: 10.1093/hmg/ddn369. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996922 Free PMC article.

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